Mesenchymal Cell Neoplasm

Patients 11, 69, and 73 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant gastrointestinal stromal tumors (GISTs) harbored a primary (pre-imatinib treatment) KIT… (full text at CIViC)

PMID 18955458 · Heinrich et al., 2008 · Open in CIViC

In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC)

PMID 26772734 · Reichardt et al., 2016 · Open in CIViC

In an in vitro study, patient derived tumor cells expressing KIT W557_K558delWK in-frame deletion mutation (endogenous expression) demonstrated sensitivity to sunitinib treatment. Sensitivity was dete… (full text at CIViC)

PMID 16638875 · Prenen et al., 2006 · Open in CIViC

In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activating mutation demonstrated sensitivity to sunitinib (IC50: 7 +/- 2nmol/L) and regorafenib (IC50: 30 … (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

Ponatinib possesses potent activity against D820G KIT mutant in preclinical experiments.

PMID 25239608 · Garner et al., 2014 · Open in CIViC

In an in vitro study, a Ba/F3 cell line expressing KIT W557_K558del primary mutation (known to confer sensitivity to regorafenib) and KIT D820G secondary mutation, KIT D820G was associated with decrea… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

In a set of preclinical experiments associated with gastrointestinal stromal tumor, the effects of the tyrosine kinase inhibitor regorafenib on Ba/F3 cell lines harboring the primary regorafenib-sensi… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

Several preclinical studies tested the effects of various tyrosine kinase inhibitors (TKIs) on Ba/F3 cell lines with primary TKI-sensitizing del 557-558 mutation, which induced IL-3 independent growth… (full text at CIViC)

PMID 25239608 · Garner et al., 2014 · Open in CIViC

Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib.

PMID 21364689 · Pierotti et al., 2011 · Open in CIViC

Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib.

PMID 21364689 · Pierotti et al., 2011 · Open in CIViC

In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC)

PMID 18955458 · Heinrich et al., 2008 · Open in CIViC

In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC)

PMID 26772734 · Reichardt et al., 2016 · Open in CIViC

This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy of regorafenib in patients with metastatic and/or unresectable gastrointestinal stromal tumors (GIS… (full text at CIViC)

PMID 27371698 · Ben-Ami et al., 2016 · Open in CIViC

Patients with exon 9 mutations treated with a higher dose of imatinib (800mg vs. 400 mg daily) experienced improved progression-free survival compared to those treated with the standard dose (HR:0.392… (full text at CIViC)

PMID 16624552 · Debiec-Rychter et al., 2006 · Open in CIViC

Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib.

PMID 21364689 · Pierotti et al., 2011 · Open in CIViC

Molecular models predict that deletion of a portion of the juxtamembrane domain relieves steric hindrance and results in higher binding affinity for imatinib.

PMID 21364689 · Pierotti et al., 2011 · Open in CIViC

In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC)

PMID 18955458 · Heinrich et al., 2008 · Open in CIViC

In a retrospective study, a Chinese gastrointestinal stromal tumor patient harboring KIT Y553_W557delYEVQW deletion mutation (n=1/2) was associated with improved response to sunitinib treatment after … (full text at CIViC)

PMID 23456621 · Gao et al., 2013 · Open in CIViC

In a phase 1/2 trial of 97 gastrointestinal stromal tumor patients, patients with KIT exon 11 mutations (44/77) treated with sunitinib were associated with shorter progression free survival (5.1mo vs.… (full text at CIViC)

PMID 18955458 · Heinrich et al., 2008 · Open in CIViC

In a retrospective study of 1124 sunitinib-treated gastrointestinal stromal tumor patients, patients with primary KIT exon 11 mutations (n=143) were associated with decreased progression free surviva… (full text at CIViC)

PMID 26772734 · Reichardt et al., 2016 · Open in CIViC

147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical study of imatinib (CSTI571-B2222). Specimens from 43 pretreatment and/or imatinib-resistant tumors wer… (full text at CIViC)

PMID 16954519 · Heinrich et al., 2006 · Open in CIViC

144 cases (discovery set: N=62 discovery; Independent validation set: N = 82) of meningiomas were analyzed for transcriptional features defining aggressive clinical course (recurrent, malignantly prog… (full text at CIViC)

PMID 26894859 · Schmidt et al., 2016 · Open in CIViC

A mass found at birth in a patient’s left arm became enlarged at age 2 and was resected and characterized as a high-grade spindle cell sarcoma. FISH and RT-PCR did not detect any common sarcoma transl… (full text at CIViC)

PMID 30709876 · Bender et al., 2019 · Open in CIViC

Both RT-PCR and PCR were used to detect and confirm the presence of fusion transcripts in RNA extracted from the surgical resections of 74 liposarcomas and 98 lipomas. LPP-HMGA2 or HMGA2-LPP fusions w… (full text at CIViC)

PMID 20332486 · Kubo et al., 2010 · Open in CIViC

In 41 patients with postbaseline scans, three patients with liposarcoma achieved a partial response (at 250, 400, and 500 mg), 31 showed stable disease, and eight had progressive disease. In total, 27… (full text at CIViC)

PMID 28240971 · Wagner et al., 2017 · Open in CIViC

Since significant ALK and MET expression was only detected in ARMS samples, the effect of crizotinib, an ATP competitive, MET and ALK inhibitor, was evaluated on the growth of RH4 and RH30 ARMS cell l… (full text at CIViC)

PMID 26445453 · Megiorni et al., 2015 · Open in CIViC

This study evaluated forty-nine cases of rhabdomyosarcoma (RMS) (17 cases of alveolar RMS, 10 of embryonal RMS, 21 of spindle cell and sclerosing RMS, and a single case of a pleomorphic RMS) for MYOD1… (full text at CIViC)

PMID 27562493 · Rekhi et al., 2016 · Open in CIViC

This study evaluated 641 cases of rhabdomyosarcoma (RMS), enrolled on Children’s Oncology Group trials (1998-2017) and UK malignant mesenchymal tumor and RMS2005 trials (1995-2016), for mutations in 3… (full text at CIViC)

PMID 34166060 · Shern et al., 2021 · Open in CIViC

This study evaluated 641 cases of rhabdomyosarcoma (RMS), enrolled on Children’s Oncology Group trials (1998-2017) and UK malignant mesenchymal tumor and RMS2005 trials (1995-2016), for mutations in 3… (full text at CIViC)

PMID 34166060 · Shern et al., 2021 · Open in CIViC

A 58-year-old male with NTRK-fusion positive gastrointestinal stromal tumour (GIST) demonstrated initial response to Larotrectinib but progressed after developing a gatekeeper mutation (TRKC F617L).

PMID 30624546 · Hong et al., 2019 · Open in CIViC

This is the first study showing the ETV6-NTRK3 gene fusion in congenital fibrosarcoma (CFS). Using cytogenetic and FISH analyses, a novel t(12;15)(p13;q25) rearrangement was identified in CFS cases (3… (full text at CIViC)

PMID 9462753 · Knezevich et al., 1998 · Open in CIViC

In a cohort of 171 pediatric rhabdomyosarcoma patients, the PAX3::FOXO1 fusion transcript was detected in 55% of patients with centrally reviewed ARMS. Critically, this fusion, along with the related … (full text at CIViC)

PMID 12039929 · Sorensen et al., 2002 · Open in CIViC

In this study, a total of 147 rhabdomyosarcomas/normal pairs were analyzed, 44 by whole genome sequencing and 103 tumors by whole exome sequencing. 50 cases classified as alveolar rhabdomyosarcoma his… (full text at CIViC)

PMID 24436047 · Shern et al., 2014 · Open in CIViC

In a cohort of 171 uniformly treated pediatric rhabdomyosarcoma (RMS) patients, 78 patients had alveolar rhabdomyosarcoma (ARMS). Of ARMS patients, 55% harbored a PAX3-FOXO1 fusion, 22% harbored a PAX… (full text at CIViC)

PMID 12039929 · Sorensen et al., 2002 · Open in CIViC

In this study, a total of 147 rhabdomyosarcomas/normal pairs were analyzed, 44 by whole genome sequencing and 103 tumors by whole exome sequencing. 50 cases classified as alveolar rhabdomyosarcoma his… (full text at CIViC)

PMID 24436047 · Shern et al., 2014 · Open in CIViC